Table 1.
Lead SNPs in discovery and replication
Discovery | Replication | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHR | BP | Locus | SNP | Type of variation | EA/NEAa | EAFb | ORc | Pd | Directione | I2 f | Phet g | EAF | OR | Ph | Direction | I2 | Phet |
1 | 205484373 | CDK18 | rs138760780 | Intronic | T/C | 0.018 | 3.48 | 9.20 10−6 | +++ | 0 | 0.943 | 0.020 | 1.88 | 0.014 | ++++− | 0 | 0.509 |
2 | 97455276 | CNNM4 | rs116656846 | Intronic | A/G | 0.023 | 2.57 | 9.88 10−6 | +++ | 0 | 0.661 | 0.028 | 0.89 | 0.696 | −+− | 0 | 0.876 |
2 | 155225182 | GALNT13 | rs17206992 | Intronic | G/A | 0.057 | 2.32 | 6.33 10−6 | +++ | 0 | 0.817 | 0.052 | 0.97 | 0.580 | ++−+− | 0 | 0.934 |
2 | 177645590 | AC092162.1 | rs113517532 | Intergenic | AGAT/A | 0.106 | 1.75 | 1.90 10−6 | +++ | 0 | 0.912 | 0.105 | 0.86 | 0.887 | +−+− | 0 | 0.658 |
3 | 13370674 | NUP210 | rs73018809 | Intronic | T/A | 0.024 | 3.50 | 1.89 10−7 | +++ | 59.1% | 0.087 | 0.022 | 0.60 | 0.955 | −+ | 0 | 0.722 |
3 | 103975418 | MIR548A3 | rs28641753 | Intergenic | T/C | 0.071 | 2.10 | 1.59 10−7 | +++ | 0 | 0.863 | 0.067 | 1.02 | 0.440 | −++− | 62.70% | 0.030 |
4 | 6171230 | JAKMIP1 | rs78031527 | Intronic | T/C | 0.201 | 1.70 | 5.41 10−6 | +++ | 0 | 0.493 | 0.209 | 1.13 | 0.114 | ++−+− | 0 | 0.622 |
5 | 10500646 | ROPN1L | rs143537377 | Intronic | C/A | 0.096 | 1.88 | 7.89 10−6 | +++ | 1.1% | 0.577 | 0.100 | 0.85 | 0.885 | −+−+ | 19.20% | 0.292 |
5 | 71394387 | MAP1B | rs115829748 | Intergenic | T/C | 0.040 | 3.16 | 1.36 10−9 | +++ | 71.9% | 0.028 | 0.036 | 1.13 | 0.283 | −+++− | 0 | 0.655 |
6 | 95557471 | MANEA-AS1 | rs9354144 | Intergenic | A/T | 0.105 | 1.71 | 5.78 10−6 | +++ | 0 | 0.785 | 0.097 | 1.05 | 0.330 | −++− | 23.90% | 0.262 |
8 | 73842523 | KCNB2 | rs571622299 | Intronic | A/G | 0.015 | 4.12 | 6.47 10−6 | +++ | 47.2% | 0.150 | NA | NA | NA | NA | NA | NA |
9 | 37034095 | PAX5 | rs143723948 | UTR5 | T/C | 0.499 | 1.65 | 6.01 10−7 | +++ | 0 | 0.985 | NA | NA | NA | NA | NA | NA |
9 | 71955717 | FAM189A2 | rs12344245 | Intronic | G/A | 0.035 | 2.52 | 9.23 10−6 | +++ | 0 | 0.950 | 0.038 | 1.45 | 0.022 | +−+++ | 0 | 0.560 |
10 | 19457387 | ARL5B | rs117826205 | Intronic | C/T | 0.026 | 2.72 | 6.30 10−6 | +++ | 0 | 0.482 | 0.029 | 1.11 | 0.315 | −++ | 5.70% | 0.374 |
11 | 8080425 | TUB | rs61879614 | Intronic | C/T | 0.048 | 2.94 | 2.60 10−6 | +++ | 9.4% | 0.332 | 0.046 | 1.11 | 0.300 | +− | 0 | 0.775 |
16 | 2160973 | PKD1 | rs116092985 | Missense (W1399R) | G/A | 0.097 | 1.85 | 1.72 10−5 | +++ | 29.5% | 0.242 | 0.096 | 1.29 | 0.026 | ++++− | 0 | 0.488 |
17 | 4328164 | SPNS3 | rs34319244 | Intergenic | C/CT | 0.440 | 1.51 | 2.59 10−6 | +++ | 48.8% | 0.142 | NA | NA | NA | NA | NA | NA |
18 | 45399356 | SMAD2 | rs113114656 | Intronic | T/C | 0.040 | 2.67 | 2.30 10−6 | +++ | 2.4% | 0.359 | 0.038 | 1.04 | 0.437 | −++−+ | 43.40% | 0.132 |
21 | 21347156 | NCRNA00320 | rs67213764 | Intergenic | G/A | 0.261 | 1.48 | 9.28 10−6 | +++ | 0 | 0.536 | 0.260 | 1.03 | 0.363 | ++− | 32.20% | 0.207 |
21 | 24929109 | AP000459.7 | rs12482425 | Intergenic | A/G | 0.314 | 0.66 | 9.33 10−6 | − | 0 | 0.509 | 0.308 | 1.09 | 0.871 | +++++ | 0 | 0.931 |
22 | 25988780 | ADRBK2 | rs373009901 | Intronic | C/G | 0.019 | 3.94 | 9.42 10−6 | +++ | 0 | 0.599 | NA | NA | NA | NA | NA | NA |
aEstimated allele/non estimated allele
bAllele frequency of the estimate allele
cOdds ratio for disease
dAssociation p value derived from the meta-analysis of the three discovery cohorts
eDirectionality of the effects across the contributing cohorts
fI2 statistics for heterogeneity across the contributing cohorts
gp value for homogeneity across the contributing cohorts
hOne sided test p value of association